{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T04:20:19Z","timestamp":1777954819138,"version":"3.51.4"},"reference-count":28,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,3,1]],"date-time":"2017-03-01T00:00:00Z","timestamp":1488326400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","clineu-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Neurology and Neurosurgery"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1016\/j.clineuro.2017.01.015","type":"journal-article","created":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T18:46:45Z","timestamp":1485974805000},"page":"104-108","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex"],"prefix":"10.1016","volume":"154","author":[{"given":"Tingting","family":"Yu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingzhong","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niu","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunqing","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiping","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qihua","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiwen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clineuro.2017.01.015_bib0005","series-title":"Die Lymphelfasse Und Ihre Beziehung Zum Bindegewebe","author":"von Recklinghausen","year":"1862"},{"key":"10.1016\/j.clineuro.2017.01.015_bib0010","series-title":"Tuberous Sclerosis Complex","author":"Gomez","year":"1999"},{"key":"10.1016\/j.clineuro.2017.01.015_bib0015","doi-asserted-by":"crossref","first-page":"1490","DOI":"10.1016\/S0140-6736(05)78872-3","article-title":"Prevalence of tuberous sclerosis estimated by capture-recapture analysis","volume":"351","author":"O'Callaghan","year":"1998","journal-title":"Lancet"},{"key":"10.1016\/j.clineuro.2017.01.015_bib0020","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.pediatrneurol.2013.08.001","article-title":"International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference","volume":"49","author":"Northrup","year":"2013","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0025","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S0140-6736(87)90416-8","article-title":"Evidence that the gene for tuberous sclerosis is on chromosome 9","volume":"1","author":"Fryer","year":"1987","journal-title":"Lancet"},{"key":"10.1016\/j.clineuro.2017.01.015_bib0030","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/ng0992-37","article-title":"Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease","volume":"2","author":"Kandt","year":"1992","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0035","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1126\/science.277.5327.805","article-title":"Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34","volume":"277","author":"van Slegtenhorst","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.clineuro.2017.01.015_bib0040","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1016\/0092-8674(93)90618-Z","article-title":"16 Tuberous Sclerosis Consortium, Identification and characterization of the tuberous sclerosis gene on chromosome 16","volume":"75","author":"European Chromosome","year":"1993","journal-title":"Cell"},{"key":"10.1016\/j.clineuro.2017.01.015_bib0045","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1093\/hmg\/7.6.1053","article-title":"Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products","volume":"7","author":"van Slegtenhorst","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0050","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.tibs.2003.11.007","article-title":"TSC2: filling the GAP in the mTOR signaling pathway","volume":"29","author":"Li","year":"2004","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0055","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1016\/j.jocn.2013.06.029","article-title":"Managing tuberous sclerosis in the Asia-Pacific region: refining practice and the role of targeted therapy","volume":"21","author":"Lawson","year":"2014","journal-title":"J. Clin. Neurosci."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0060","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1017\/S0033291702007092","article-title":"Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex","volume":"33","author":"Joinson","year":"2003","journal-title":"Psychol. Med."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0065","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1111\/j.1528-1167.2009.02474.x","article-title":"The natural history of epilepsy in tuberous sclerosis complex","volume":"51","author":"Chu-Shore","year":"2010","journal-title":"Epilepsia"},{"key":"10.1016\/j.clineuro.2017.01.015_bib0070","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/S0002-9149(03)00677-5","article-title":"Association between cardiac tumors and tuberous sclerosis in the fetus and neonate","volume":"92","author":"Tworetzky","year":"2003","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0075","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0140-6736(08)61279-9","article-title":"Tuberous sclerosis","volume":"372","author":"Curatolo","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.clineuro.2017.01.015_bib0080","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1111\/j.1749-6632.1991.tb37754.x","article-title":"Epidemiology of tuberous sclerosis","volume":"615","author":"Osborne","year":"1991","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0085","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/sj.ejhg.5201402","article-title":"Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype\u2013phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex","volume":"13","author":"Sancak","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0090","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K","article-title":"Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis","volume":"14","author":"Niida","year":"1999","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0095","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/1471-2350-7-72","article-title":"Molecular and clinical analyses of 84 patients with tuberous sclerosis complex","volume":"7","author":"Hung","year":"2006","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0100","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00210743","article-title":"The mutational spectrum of single base pair substitutions in mRNA splice junctions of human genes: causes and consequences","volume":"90","author":"Krawczak","year":"1992","journal-title":"Hum. Genet."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0105","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/jmg.2004.029538","article-title":"Splicing in action: assessing disease causing sequence changes","volume":"42","author":"Baralle","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0110","doi-asserted-by":"crossref","first-page":"475","DOI":"10.2174\/138920208786241243","article-title":"Genetics and molecular biology of tuberous sclerosis complex","volume":"9","author":"Napolioni","year":"2008","journal-title":"Curr. Genomics"},{"key":"10.1016\/j.clineuro.2017.01.015_bib0115","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1086\/301705","article-title":"Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients","volume":"62","author":"Au","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0120","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.eplepsyres.2012.07.007","article-title":"Central TSC2 missense mutations are associated with a reduced risk of infantile spasms","volume":"103","author":"van Eeghen","year":"2013","journal-title":"Epilepsy Res."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0125","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1093\/hmg\/5.2.249","article-title":"Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients","volume":"5","author":"Wilson","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0130","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1002\/pd.2070","article-title":"PGD on a recombinant allele: crossover between the TSC2 gene and \u2018linked' markers impairs accurate diagnosis","volume":"28","author":"Altarescu","year":"2008","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0135","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/humu.21451","article-title":"Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex","volume":"32","author":"Hoogeveen-Westerveld","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.clineuro.2017.01.015_bib0140","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1111\/j.1399-0004.2011.01648.x","article-title":"Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds","volume":"81","author":"Wentink","year":"2012","journal-title":"Clin. Genet."}],"container-title":["Clinical Neurology and Neurosurgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846717300215?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0303846717300215?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,4]],"date-time":"2018-09-04T14:26:19Z","timestamp":1536071179000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0303846717300215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":28,"alternative-id":["S0303846717300215"],"URL":"https:\/\/doi.org\/10.1016\/j.clineuro.2017.01.015","relation":{},"ISSN":["0303-8467"],"issn-type":[{"value":"0303-8467","type":"print"}],"subject":[],"published":{"date-parts":[[2017,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex","name":"articletitle","label":"Article Title"},{"value":"Clinical Neurology and Neurosurgery","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clineuro.2017.01.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}